ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825762735
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
288008
ClinVar RCV Id:
RCV000385438
RCV000525552
RCV001535516
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124455.1:p.Ala784Val
CA1706139
NM_001130983.2:c.2351C>T